Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay (MPMCD)

进行性线粒体肌病伴有先天性白内障和发育迟缓(来自ICD-11)

别称:

Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome

Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay

Myopathy with Cataract and Combined Respiratory Chain Deficiency

Mpmcd

Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay

Congenital Cataract-Progressive Muscular Hypotonia-Deafness-Developmental Delay Syndrome

Mitochondrial Complex Deficiency, Combined

Combined Mitochondrial Complex Deficiency

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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

肌病，线粒体进行性，伴有先天性白内障和发育迟缓，也称为先天性白内障-进行性肌肉张力低下-听力损失-发育迟缓综合征，与线粒体疾病和先天性白内障-进行性肌肉张力低下-听力损失-发育迟缓有关。与肌病，线粒体进行性，伴有先天性白内障和发育迟缓相关的基因是GFER（生长因子，肝脏再生增强剂）。附属组织包括眼睛和苍白球，相关表型为上睑下垂和肌张力低下。

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